NEUROG2
geneOn this page
Also known as Atoh4Math4Angn-2bHLHa8NGN2
Summary
NEUROG2 (neurogenin 2, HGNC:13805) is a protein-coding gene on chromosome 4q25, encoding Neurogenin-2 (Q9H2A3). Transcriptional regulator.
This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons.
Source: NCBI Gene 63973 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 30 total
- Transcription factor: yes — 27 downstream targets (CollecTRI)
- MANE Select transcript:
NM_024019
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13805 |
| Approved symbol | NEUROG2 |
| Name | neurogenin 2 |
| Location | 4q25 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Atoh4, Math4A, ngn-2, bHLHa8, NGN2 |
| Ensembl gene | ENSG00000178403 |
| Ensembl biotype | protein_coding |
| OMIM | 606624 |
| Entrez | 63973 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000313341
RefSeq mRNA: 1 — MANE Select: NM_024019
NM_024019
CCDS: CCDS3698
Canonical transcript exons
ENST00000313341 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001212603 | 112515847 | 112516180 |
| ENSE00001212610 | 112513516 | 112515476 |
Expression profiles
Bgee: expression breadth broad, 43 present calls, max score 97.24.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8826 / max 204.6808, expressed in 134 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 53653 | 0.8826 | 134 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 97.24 | gold quality |
| ventricular zone | UBERON:0003053 | 94.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.94 | gold quality |
| cortical plate | UBERON:0005343 | 87.30 | gold quality |
| embryo | UBERON:0000922 | 78.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 59.26 | gold quality |
| cerebellar cortex | UBERON:0002129 | 58.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 58.41 | gold quality |
| putamen | UBERON:0001874 | 58.38 | gold quality |
| gluteal muscle | UBERON:0002000 | 58.35 | gold quality |
| triceps brachii | UBERON:0001509 | 58.16 | gold quality |
| cerebellum | UBERON:0002037 | 57.50 | gold quality |
| amygdala | UBERON:0001876 | 56.40 | gold quality |
| caudate nucleus | UBERON:0001873 | 55.46 | gold quality |
| Ammon’s horn | UBERON:0001954 | 54.13 | gold quality |
| cerebellar vermis | UBERON:0004720 | 53.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 51.23 | silver quality |
| prefrontal cortex | UBERON:0000451 | 50.93 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.93 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 49.68 | gold quality |
| temporal lobe | UBERON:0001871 | 49.38 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cingulate cortex | UBERON:0003027 | 48.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 48.81 | gold quality |
| quadriceps femoris | UBERON:0001377 | 48.64 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 544.08 |
| E-MTAB-8894 | yes | 400.34 |
| E-HCAD-5 | yes | 20.64 |
| E-ANND-3 | no | 1.31 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
27 targets.
| Target | Regulation |
|---|---|
| ASCL1 | Repression |
| ATOH7 | |
| BTG2 | Activation |
| CCND1 | Repression |
| CCNE2 | Repression |
| DLK1 | Repression |
| DLL1 | Activation |
| DLL3 | Activation |
| ELAVL4 | Activation |
| EOMES | Activation |
| ETV1 | Repression |
| FEZF1 | |
| FEZF2 | |
| HES1 | |
| JAG2 | Activation |
| MEG8 | Repression |
| NEUROD1 | Activation |
| NEUROD4 | Activation |
| NEUROG2 | |
| PAX3 | |
| PAX6 | Repression |
| PCSK6 | |
| RAP1B | |
| RND2 | Activation |
| RTL1 | Repression |
| SIRT1 | |
| ZBTB18 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0669.1 | NEUROG2 | Tal-related |
| MA1642.1 | NEUROG2 | Tal-related |
| MA1642.2 | NEUROG2 | Tal-related |
JASPAR matrix evidence (PMIDs): PMID:19389376
Upstream regulators (CollecTRI, top): ATOH7, BMP7, CTNNB1, ESR1, FEZF1, FGF19, FOXA1, FOXA2, HES1, HES5, HEYL, LMX1A, NEUROD1, NEUROG1, NEUROG2, NEUROG3, OTX2, PAX3, PAX6, SOX2, TCF3, UNCX, ZBTB18
miRNA regulators (miRDB)
109 targeting NEUROG2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 14)
- expression of Ngn2 during the differentiation of neuronl human embryo stem cells. (PMID:17784840)
- Rat and mouse species-dependent differences of Nurr1 and Ngn2 actions in dopamine neuron differentiation. (PMID:18242186)
- Novel compound heterozygous variants (Gly56Arg and Asp206Glu) were found in a 91-year normal male, suggesting that mutations in the coding region of the NEUROG2 gene play little or no role in the development of PD. (PMID:19879328)
- human embryonic progenitors expressing neurogenin-2 stimulate axonal sprouting and improve motor recovery after severe spinal cord injury (PMID:21209909)
- Results show that neurogenin-1 and -2 drive homogeneous differentiation of human stem cells into bipolar neurons in 4 days in defined media. (PMID:25403753)
- Study shows neurogenin 2 enhances the generation of patient-specific induced neuronal cells. (PMID:25912433)
- combining NGN2 programming with SMAD and WNT inhibition generates human patterned induced neurons (PMID:29791859)
- HOTAIRM1 regulates neuronal differentiation by modulating NEUROGENIN 2 and the downstream neurogenic cascade. (PMID:32661334)
- Generation and optimization of highly pure motor neurons from human induced pluripotent stem cells via lentiviral delivery of transcription factors. (PMID:32783653)
- MiR-211 determines brain metastasis specificity through SOX11/NGN2 axis in triple-negative breast cancer. (PMID:33536579)
- NGN2 induces diverse neuron types from human pluripotency. (PMID:34358451)
- Cend1 and Neurog2 efficiently reprogram human cortical astrocytes to neural precursor cells and induced-neurons. (PMID:34549796)
- Neurogenin-2 induced neuronal differentiation in co-cultured bone marrow stromal and neonatal cortical cells. (PMID:38385475)
- Generation of human excitatory forebrain neurons by cooperative binding of proneural NGN2 and homeobox factor EMX1. (PMID:38446849)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Neurog2 | ENSMUSG00000027967 |
| rattus_norvegicus | Neurog2 | ENSRNOG00000010972 |
| drosophila_melanogaster | amos | FBGN0003270 |
| drosophila_melanogaster | ato | FBGN0010433 |
| drosophila_melanogaster | tap | FBGN0015550 |
| drosophila_melanogaster | Oli | FBGN0032651 |
| caenorhabditis_elegans | WBGENE00001961 | |
| caenorhabditis_elegans | WBGENE00003018 | |
| caenorhabditis_elegans | WBGENE00003595 | |
| caenorhabditis_elegans | WBGENE00009540 | |
| caenorhabditis_elegans | WBGENE00013665 |
Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), ATOH7 (ENSG00000179774), BHLHA15 (ENSG00000180535), BHLHE22 (ENSG00000180828), NEUROG1 (ENSG00000181965), OLIG1 (ENSG00000184221), OLIG2 (ENSG00000205927)
Protein
Protein identifiers
Neurogenin-2 — Q9H2A3 (reviewed: Q9H2A3)
Alternative names: Class A basic helix-loop-helix protein 8, Protein atonal homolog 4
All UniProt accessions (1): Q9H2A3
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5’-CANNTG-3’).
Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_076924* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR032655 | Ngn-2_bHLH | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR050359 | bHLH_transcription_factors | Family |
Pfam: PF00010
UniProt features (5 total): region of interest 2, chain 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2A3-F1 | 64.98 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
AHRARNT_01, chr4q25, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, TGCACTT_MIR519C_MIR519B_MIR519A, GCANCTGNY_MYOD_Q6, TTTGTAG_MIR520D, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_FOREBRAIN_DEVELOPMENT, ATGTTAA_MIR302C, COUP_01, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, HNF4_DR1_Q3, HNF4_01
GO Biological Process (7): sensory organ development (GO:0007423), forebrain development (GO:0030900), positive regulation of transcription by RNA polymerase II (GO:0045944), obsolete positive regulation of DNA-binding transcription factor activity (GO:0051091), axon development (GO:0061564), nervous system development (GO:0007399), cell differentiation (GO:0030154)
GO Molecular Function (6): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| animal organ development | 1 |
| brain development | 1 |
| anatomical structure development | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| neuron projection development | 1 |
| system development | 1 |
| cellular developmental process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| protein binding | 1 |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1632 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NEUROG2 | ASCL1 | P50553 | 971 |
| NEUROG2 | PAX6 | P26367 | 901 |
| NEUROG2 | ISL1 | P20663 | 891 |
| NEUROG2 | LHX3 | Q9UBR4 | 889 |
| NEUROG2 | LMX1A | Q8TE12 | 871 |
| NEUROG2 | SOX1 | O00570 | 862 |
| NEUROG2 | SOX2 | P48431 | 841 |
| NEUROG2 | POU4F1 | Q01851 | 827 |
| NEUROG2 | OLIG2 | Q13516 | 813 |
| NEUROG2 | LHX1 | P48742 | 804 |
| NEUROG2 | RND2 | P52198 | 795 |
| NEUROG2 | ISL2 | Q96A47 | 794 |
| NEUROG2 | LDB1 | Q86U70 | 773 |
| NEUROG2 | LHX2 | P50458 | 749 |
| NEUROG2 | SOX3 | P35714 | 746 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PFDN5 | NEUROG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEUROG2 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TCF4 | HMGB1 | psi-mi:“MI:0914”(association) | 0.350 |
| PFDN5 | NEUROG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): NEUROG2 (Synthetic Growth Defect), NEUROG2 (Two-hybrid), NEUROG2 (Negative Genetic), NEUROG2 (Cross-Linking-MS (XL-MS)), NEUROG2 (Affinity Capture-MS), NEUROG2 (Affinity Capture-MS), NEUROG2 (Affinity Capture-MS), NEUROG2 (Affinity Capture-MS), NEUROG2 (Affinity Capture-Western)
ESM2 similar proteins: A6NEQ2, A7MB34, A8MYZ6, O02754, O02755, O02756, O15522, O35392, O60548, O70191, O70220, O77728, P05554, P16443, P17542, P17676, P21272, P22091, P28033, P49715, P49716, P53566, P54845, P70447, Q00322, Q03484, Q10586, Q13461, Q15744, Q32PF6, Q5PQP0, Q5T953, Q60843, Q60925, Q63244, Q6P788, Q70KY4, Q7RTS3, Q8N350, Q8NDY6
Diamond homologs: A8E5T6, B6VQA1, O09029, O09105, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O45489, O57598, O88940, O96004, O96642, P10627, P13903, P46581, P48985, P48986, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70447, P70562, P70595, P70660, P70661, P79765, P79766, P79782, P79920, P97832, Q08DI0, Q0V9X5
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NEUROG3 | “down-regulates quantity by repression” | NEUROG2 | “transcriptional regulation” |
| HES1 | “down-regulates quantity by repression” | NEUROG2 | “transcriptional regulation” |
| HES5 | “down-regulates quantity by repression” | NEUROG2 | “transcriptional regulation” |
| NEUROG2 | up-regulates | Neurogenesis |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
122 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:112515472:ACATC:A | acceptor_gain | 1.0000 |
| 4:112515473:CATC:C | acceptor_gain | 1.0000 |
| 4:112515473:CATCC:C | acceptor_gain | 1.0000 |
| 4:112515475:TC:T | acceptor_gain | 1.0000 |
| 4:112515476:CC:C | acceptor_gain | 1.0000 |
| 4:112515477:CT:C | acceptor_loss | 1.0000 |
| 4:112515478:T:C | acceptor_loss | 1.0000 |
| 4:112515481:C:CT | acceptor_gain | 1.0000 |
| 4:112515846:CTTA:C | donor_gain | 1.0000 |
| 4:112515474:ATC:A | acceptor_gain | 0.9900 |
| 4:112515477:C:CC | acceptor_gain | 0.9900 |
| 4:112515477:C:T | acceptor_gain | 0.9900 |
| 4:112515481:C:T | acceptor_gain | 0.9900 |
| 4:112515482:G:T | acceptor_gain | 0.9900 |
| 4:112515843:TTAC:T | donor_loss | 0.9900 |
| 4:112515845:A:AC | donor_gain | 0.9900 |
| 4:112515845:ACTTA:A | donor_loss | 0.9900 |
| 4:112515846:C:CC | donor_gain | 0.9900 |
| 4:112515846:CT:C | donor_gain | 0.9900 |
| 4:112515846:CTT:C | donor_gain | 0.9900 |
| 4:112515846:CTTAG:C | donor_gain | 0.9900 |
| 4:112515850:G:C | donor_gain | 0.9800 |
| 4:112515842:CTTA:C | donor_gain | 0.9500 |
| 4:112515849:A:AC | donor_gain | 0.9500 |
| 4:112515841:A:AC | donor_gain | 0.8900 |
| 4:112515842:C:CC | donor_gain | 0.8900 |
| 4:112515865:G:A | donor_gain | 0.8800 |
| 4:112515809:C:CT | donor_gain | 0.8300 |
| 4:112515348:T:TA | donor_gain | 0.7700 |
| 4:112515810:C:CT | donor_gain | 0.7600 |
AlphaMissense
1720 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:112514985:A:G | L164P | 1.000 |
| 4:112514985:A:T | L164H | 1.000 |
| 4:112514994:A:C | I161S | 1.000 |
| 4:112514994:A:G | I161T | 1.000 |
| 4:112514994:A:T | I161N | 1.000 |
| 4:112514997:T:C | Y160C | 1.000 |
| 4:112514998:A:C | Y160D | 1.000 |
| 4:112514998:A:G | Y160H | 1.000 |
| 4:112515006:G:T | A157D | 1.000 |
| 4:112515009:A:G | F156S | 1.000 |
| 4:112515012:C:G | R155P | 1.000 |
| 4:112515015:A:C | L154R | 1.000 |
| 4:112515015:A:G | L154P | 1.000 |
| 4:112515015:A:T | L154Q | 1.000 |
| 4:112515021:T:A | E152V | 1.000 |
| 4:112515024:A:C | I151S | 1.000 |
| 4:112515024:A:T | I151N | 1.000 |
| 4:112515026:C:A | K150N | 1.000 |
| 4:112515026:C:G | K150N | 1.000 |
| 4:112515027:T:A | K150M | 1.000 |
| 4:112515028:T:C | K150E | 1.000 |
| 4:112515028:T:G | K150Q | 1.000 |
| 4:112515030:G:A | T149I | 1.000 |
| 4:112515033:A:G | L148P | 1.000 |
| 4:112515057:G:T | P140H | 1.000 |
| 4:112515058:G:A | P140S | 1.000 |
| 4:112515060:A:T | L139H | 1.000 |
| 4:112515070:G:T | R136S | 1.000 |
| 4:112515072:A:G | L135P | 1.000 |
| 4:112515072:A:T | L135Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000782099 (4:112515422 C>A), RS1000990135 (4:112514837 C>T), RS1001897165 (4:112514511 G>A,T), RS1001983168 (4:112515812 C>A,T), RS1002963445 (4:112517060 A>C), RS1004470346 (4:112515203 G>A), RS1005210649 (4:112516090 T>C), RS1005445259 (4:112513663 G>A), RS1006887143 (4:112516747 T>G), RS1007170239 (4:112516594 C>A,G), RS1007948197 (4:112517602 T>C,G), RS1008171228 (4:112517969 G>A), RS1008536444 (4:112516224 A>G), RS1008615740 (4:112515291 C>A,T), RS1009014082 (4:112513519 T>A,C,G)
Disease associations
OMIM: gene MIM:606624 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002337_110 | Amyotrophic lateral sclerosis (sporadic) | 3.000000e-06 |
| GCST005951_145 | Body mass index | 4.000000e-08 |
| GCST010143_1 | Meat-related diet | 3.000000e-08 |
| GCST010701_20 | Cortical surface area (MOSTest) | 1.000000e-242 |
| GCST010702_74 | Subcortical volume (MOSTest) | 2.000000e-11 |
| GCST010703_129 | Brain morphology (MOSTest) | 3.000000e-08 |
| GCST011053_9 | Neuroblastoma (pediatric) | 2.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Chir 99021 | affects binding, affects cotreatment, increases expression | 2 |
| Tretinoin | affects cotreatment, increases expression, decreases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| securinine | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| doxylamine succinate | increases expression | 1 |
| abrine | increases expression | 1 |
| nilotinib | increases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Dabigatran | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Abacavir | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Methanol | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Caffeine | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Folic Acid | increases expression | 1 |
| Phenytoin | increases expression | 1 |
| Smoke | increases expression | 1 |
| Thalidomide | increases expression | 1 |
Cellosaurus cell lines
93 cell lines: 70 embryonic stem cell, 23 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A4L5 | SEES3-1V human NEUROG2, clone1 | Embryonic stem cell | Male |
| CVCL_A4L6 | SEES3-1V human NEUROG2, clone2 | Embryonic stem cell | Male |
| CVCL_A4L7 | SEES3-1V human NEUROG2, clone3 | Embryonic stem cell | Male |
| CVCL_C4EK | H9 AAVS1-TRE3G-NGN2 | Embryonic stem cell | Female |
| CVCL_C4EL | H9 AAVS1-TRE3G-NGN2 ATG12-/- | Embryonic stem cell | Female |
| CVCL_C4EM | H9 AAVS1-TRE3G-NGN2 PINK1-/- | Embryonic stem cell | Female |
| CVCL_C4EN | H9 AAVS1-TRE3G-NGN2 FBXO7-/- | Embryonic stem cell | Female |
| CVCL_C7XJ | Pre-i3Neuron NGN2 iPSC clone 1 | Induced pluripotent stem cell | Male |
| CVCL_C7XK | Pre-i3Neuron NGN2 iPSC LRRK2-p.G2019S knock-in | Induced pluripotent stem cell | Male |
| CVCL_D1IA | H9 AAVS1-TRE3G-NGN2 RETREG3-/- | Embryonic stem cell | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuroblastoma, sporadic amyotrophic lateral sclerosis